Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Ocular manifestations of Emanuel syndrome.

Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36-year-old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Microarray analysis results included 47,XY,+der(22)t(11;22)(q23;q11.2), and a 269 kb deletion of 7q31.33(125,898,014-126,166,829). Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a GRM8 deletion on chromosome 7, which may cause glutamate-induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype. We provide the first detailed description these ocular abnormalities in a patient with Emmanuel syndrome.

Anterior Segment Optical Coherence Tomography in Locating the Insertion of Horizontal Extraocular Muscles After Strabismus Surgery.

PURPOSE: To evaluate the accuracy of anterior segment optical coherence tomography (AS-OCT) for locating horizontal extraocular muscle (EOM) insertion after strabismus surgery. METHODS: The distance from the limbus to the postoperative muscle insertion was measured with calipers intraoperatively and by AS-OCT during the postoperative visit of adults undergoing strabismus surgery. Images were collected by masked technicians. Intraclass correlation coefficients (ICC) were used to evaluate the agreement between measurements. RESULTS: Twenty-eight patients were recruited. Measurements were taken from 31 eyes, including 17 lateral and 14 medial rectus muscles. EOM insertion was successfully identified by AS-OCT for 14 (45%) cases. The ICC between intra-operative and AS-OCT measurement was 0.886 when the distance from the limbus to the insertion of EOM was less than 8 mm and 0.001 when the distance from the limbus was between 8 and 10 mm. EOM insertion was undetectable if distance to the limbus was greater than 10 mm. CONCLUSIONS: AS-OCT can accurately identify post-surgical horizontal muscle insertion if the insertion is less than 8 mm from the limbus. [J Pediatr Ophthalmol Strabismus. 2021;58(1):62-65.].